Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

Genetic Variants at 6p21.1 and 7p15.3 Identified by GWASs of Multiple Cancers and Ovarian Cancer Risk: a Case-control Study in Han Chinese Women

  • Li, Da-Ke (Department of Gynaecology, Jiangsu Provincial Hospital of TCM, Affliated hospital of Nanjing University of TCM) ;
  • Han, Jing (MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University) ;
  • Liu, Ji-Bin (Nantong Tumor Hospital) ;
  • Jin, Guang-Fu (Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Nanjing Medical University) ;
  • Qu, Jun-Wei (Jiangsu Province Tumor Hospital Department of Gynaecology) ;
  • Zhu, Meng (MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University) ;
  • Wang, Yan-Ru (MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University) ;
  • Jiang, Jie (MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University) ;
  • Ma, Hong-Xia (MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University)
  • Published : 2014.01.15
Download PDF
⟨ Previous Next ⟩

Abstract

A recent study summarized several published genome-wide association studies (GWASs) of cancer and reported two pleiotropic loci at 6p21.1 and 7p15.3 contributing to multiple cancers including lung cancer, noncardia gastric cancer (NCGC), and esophageal squamous-cell carcinoma (ESCC) in Han Chinese. However, it is not known whether such genetic variants have similar effects on the risk of gynecologic cancers, such as ovarian cancer. Hence, we explored associations between genetic variants in 6p21.1 and 7p15.3 and ovarian cancer risk in Han Chinese women. We performed an independent case-control study by genotyping the two loci (rs2494938 A > G at 6p21.1 and rs2285947 A > G at 7p15.3) in a total of 377 ovarian cancer cases and 1,034 cancer-free controls using TaqMan allelic discrimination assay. We found that rs2285947 at 7p15.3 was significantly associated with risk of ovarian cancer with per allele odds ratio (OR) of 1.33 [95% confidence interval (CI): 1.08-1.64, P=0.008]. However, no significant association was observed between rs2494938 and ovarian cancer risk. Our results showed that rs2285947 at 7p15.3 may also contribute to the development of ovarian cancer in Han Chinese women, further suggesting pleiotropy of 7p15.3 in multiple cancers.

Keywords

References

  1. Bishop DT, Demenais F, Iles MM, et al (2009). Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet, 41, 920-5. https://doi.org/10.1038/ng.411
  2. Broderick P, Chubb D, Johnson DC, et al (2012). Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet, 44, 58-61.
  3. Castellanos A, Lang G, Frampton J, Weston K (2007). Regulation of erythropoiesis by the neuronal transmembrane protein Lrfn2. Exp Hematol, 35, 724-34. https://doi.org/10.1016/j.exphem.2007.02.004
  4. Cheung PY, Zhang Y, Long J, et al (2004). p150 (Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs. J Biol Chem, 279, 45308-11. https://doi.org/10.1074/jbc.C400333200
  5. Cramer DW (2012). The epidemiology of endometrial and ovarian cancer. Hematol Oncol Clin North Am, 26, 1-12. https://doi.org/10.1016/j.hoc.2011.10.009
  6. Cuadrado A, Nebreda AR (2010). Mechanisms and functions of p38 MAPK signalling. Biochem J, 429, 403-17. https://doi.org/10.1042/BJ20100323
  7. Cuenda A, Rousseau S (2007). p38 MAP-kinases pathway regulation, function and role in human diseases. Biochim Biophys Acta, 1773, 1358-75. https://doi.org/10.1016/j.bbamcr.2007.03.010
  8. Ge B, Pokholok DK, Kwan T, et al (2009). Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet, 41, 1216-22. https://doi.org/10.1038/ng.473
  9. Han J, Lee J D, Bibbs L, Ulevitch R J (1994). A MAP kinase targeted by endotoxin and hyperosmolarity in mammalian cells. Science, 265, 808-11. https://doi.org/10.1126/science.7914033
  10. Jiang Y, Shen H, Liu X, et al (2011). Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women. PLoS One, 6, e21563. https://doi.org/10.1371/journal.pone.0021563
  11. Jin G, Ma H, Wu C, et al (2012). Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese. Am J Hum Genet, 91, 928-934. https://doi.org/10.1016/j.ajhg.2012.09.009
  12. Kim MS, Yamashita K, Baek JH, et al (2006). N-methyl-Daspartate receptor type 2B is epigenetically inactivated and exhibits tumor-suppressive activity in human esophageal cancer. Cancer Res, 66, 3409-3418. https://doi.org/10.1158/0008-5472.CAN-05-1608
  13. Kumar S, Kumar A, Shah PP, et al (2011). MicroRNA signature of cis-platin resistant vs. cis-platin sensitive ovarian cancer cell lines. J Ovarian Res, 4, 17. https://doi.org/10.1186/1757-2215-4-17
  14. Lee JC, Laydon JT, McDonnell PC, et al (1994). A protein kinase involved in the regulation of inflammatory cytokine biosynthesis. Nature, 372, 739-746. https://doi.org/10.1038/372739a0
  15. Lowe KA, Chia VM, Taylor A, et al (2013). An international assessment of ovarian cancer incidence and mortality. Gynecol Oncol, 130, 107-14. https://doi.org/10.1016/j.ygyno.2013.03.026
  16. Luan NN, Wu QJ, Gong TT, et al (2013). Breastfeeding and ovarian cancer risk: a meta-analysis of epidemiologic studies. Am J Clin Nutr, 98, 1020-31. https://doi.org/10.3945/ajcn.113.062794
  17. Martino A, Campa D, Jamroziak K, et al (2012). Impact of polymorphic variation at 7p15.3, 3p22.1 and 2p23.3 loci on risk of multiple myeloma. Br J Haematol, 158, 805-809. https://doi.org/10.1111/j.1365-2141.2012.09244.x
  18. Mohamed FZ, Hussien YM, AlBakry MM, et al (2013). Role of DNA repair and cell cycle control genes in ovarian cancer susceptibility. Mol Biol Rep, 40, 3757-68. https://doi.org/10.1007/s11033-012-2452-8
  19. Moorman PG, Havrilesky LJ, Gierisch JM, et al (2013). Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: A systematic review and meta-Analysis. J Clin Oncol, 31, 4188-98. https://doi.org/10.1200/JCO.2013.48.9021
  20. Oh EK, Kim YW, Kim IW, et al (2012). Differential DNA copy number aberrations in the progression of cervical lesions to invasive cervical carcinoma. Int J Oncol, 41, 2038-46.
  21. Olsen CM, Nagle CM, Whiteman DC, et al (2013). Obesity and risk of ovarian cancer subtypes: evidence from the Ovarian Cancer Association Consortium. Endocr Relat Cancer, 20, 251-62. https://doi.org/10.1530/ERC-12-0395
  22. Pasalich M, Su D, Binns CW, Lee AH (2013). Reproductive factors for ovarian cancer in southern Chinese women. J Gynecol Oncol, 24, 135-40. https://doi.org/10.3802/jgo.2013.24.2.135
  23. Pomerantz MM, Ahmadiyeh N, Jia L, et al (2009). The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet, 41, 882-4. https://doi.org/10.1038/ng.403
  24. Rafnar T, Sulem P, Stacey SN, et al (2009). Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet, 41, 221-7. https://doi.org/10.1038/ng.296
  25. Shen H, Fridley BL, Song H, et al (2013). Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun, 4, 1628. https://doi.org/10.1038/ncomms2629
  26. Stacey SN, Sulem P, Masson G, et al (2009). New common variants affecting susceptibility to basal cell carcinoma. Nat Genet, 41, 909-914. https://doi.org/10.1038/ng.412
  27. Tamura H, Suzuki M, Moriya Y, et al (2011). Aberrant methylation of N-methyl-D-aspartate receptor type 2B (NMDAR2B) in non-small cell carcinoma. BMC Cancer, 11, 220. https://doi.org/10.1186/1471-2407-11-220
  28. Turnbull C, Ahmed S, Morrison J, et al (2010). Genomewide association study identifies five new breast cancer susceptibility loci. Nat Genet, 42, 504-7. https://doi.org/10.1038/ng.586
  29. Tuupanen S, Turunen M, Lehtonen R, et al (2009). The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet, 41, 885-90. https://doi.org/10.1038/ng.406
  30. Vargas-Hernandez VM (2013). [Endometriosis as a risk factor for ovarian cancer]. Cir Cir, 81, 163-8.
  31. Wang CY, Chang K, Petralia RS, et al (2006). A novel family of adhesion-like molecules that interacts with the NMDA receptor. J Neurosci, 26, 2174-83. https://doi.org/10.1523/JNEUROSCI.3799-05.2006
  32. Xun WW, Brennan P, Tjonneland A, et al (2011). Singlenucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC). Mutagenesis, 26, 657-66. https://doi.org/10.1093/mutage/ger030
  33. Yang TH, Kon M, DeLisi C (2013). Genome-Wide Association Studies. Data Mining for Systems Biology, Springer Verlag, 233-51.